Kobayashi Y - Search Results

1

The HCN1 p.Ser399Pro variant causes epileptic encephalopathy with super-refractory status epilepticus.

Kobayashi Y, Tohyama J, Akasaka N, Yamada K, Hojo M, Seki E, Miura M, Soma N, Ono T, Kato M, Nakashima M, Saitsu H, Matsumoto N. Kobayashi Y, et al. Hum Genome Var. 2023 Jun 23;10(1):20. doi: 10.1038/s41439-023-00247-8. Hum Genome Var. 2023. PMID: 37353494 Free PMC article.

2

Infantile epileptic encephalopathy with a hyperkinetic movement disorder and hand stereotypies associated with a novel SCN1A mutation.

Ohashi T, Akasaka N, Kobayashi Y, Magara S, Kawashima H, Matsumoto N, Saitsu H, Tohyama J. Ohashi T, et al. Among authors: kobayashi y. Epileptic Disord. 2014 Jun;16(2):208-12. doi: 10.1684/epd.2014.0649. Epileptic Disord. 2014. PMID: 24776920 Free article.

3

High prevalence of genetic alterations in early-onset epileptic encephalopathies associated with infantile movement disorders.

Kobayashi Y, Tohyama J, Kato M, Akasaka N, Magara S, Kawashima H, Ohashi T, Shiraishi H, Nakashima M, Saitsu H, Matsumoto N. Kobayashi Y, et al. Brain Dev. 2016 Mar;38(3):285-92. doi: 10.1016/j.braindev.2015.09.011. Epub 2015 Oct 23. Brain Dev. 2016. PMID: 26482601

4

GRIN2D variants in three cases of developmental and epileptic encephalopathy.

Tsuchida N, Hamada K, Shiina M, Kato M, Kobayashi Y, Tohyama J, Kimura K, Hoshino K, Ganesan V, Teik KW, Nakashima M, Mitsuhashi S, Mizuguchi T, Takata A, Miyake N, Saitsu H, Ogata K, Miyatake S, Matsumoto N. Tsuchida N, et al. Among authors: kobayashi y. Clin Genet. 2018 Dec;94(6):538-547. doi: 10.1111/cge.13454. Clin Genet. 2018. PMID: 30280376

5

De novo variants in CELF2 that disrupt the nuclear localization signal cause developmental and epileptic encephalopathy.

Itai T, Hamanaka K, Sasaki K, Wagner M, Kotzaeridou U, Brösse I, Ries M, Kobayashi Y, Tohyama J, Kato M, Ong WP, Chew HB, Rethanavelu K, Ranza E, Blanc X, Uchiyama Y, Tsuchida N, Fujita A, Azuma Y, Koshimizu E, Mizuguchi T, Takata A, Miyake N, Takahashi H, Miyagi E, Tsurusaki Y, Doi H, Taguri M, Antonarakis SE, Nakashima M, Saitsu H, Miyatake S, Matsumoto N. Itai T, et al. Among authors: kobayashi y. Hum Mutat. 2021 Jan;42(1):66-76. doi: 10.1002/humu.24130. Epub 2020 Nov 10. Hum Mutat. 2021. PMID: 33131106

6

Clinical and electroencephalographic findings prior to the onset of juvenile myoclonic epilepsy: A case series.

Hiraiwa A, Kobayashi Y, Hojo M, Tohyama J. Hiraiwa A, et al. Among authors: kobayashi y. Epileptic Disord. 2023 Feb;25(1):80-86. doi: 10.1002/epd2.20052. Epub 2023 Apr 17. Epileptic Disord. 2023. PMID: 36946369

7

Two-year efficacy of lacosamide as adjunctive therapy for generalized tonic-clonic seizures in patients with juvenile myoclonic epilepsy.

Kobayashi Y, Honda R, Yamada K, Hojo M, Miura M, Seki E, Ono T, Tohyama J. Kobayashi Y, et al. Brain Dev. 2023 Sep;45(8):451-455. doi: 10.1016/j.braindev.2023.05.007. Epub 2023 Jun 10. Brain Dev. 2023. PMID: 37308336 Free article.

8

Congenital variant of Rett syndrome due to an intragenic large deletion in MECP2.

Kobayashi Y, Ohashi T, Akasaka N, Tohyama J. Kobayashi Y, et al. Brain Dev. 2012 Aug;34(7):601-4. doi: 10.1016/j.braindev.2011.09.014. Epub 2011 Oct 15. Brain Dev. 2012. PMID: 22001500

9

Gómez-López-Hernández syndrome in a Japanese patient: a case report.

Kobayashi Y, Kawashima H, Magara S, Akasaka N, Tohyama J. Kobayashi Y, et al. Brain Dev. 2015 Mar;37(3):356-8. doi: 10.1016/j.braindev.2014.05.002. Epub 2014 May 21. Brain Dev. 2015. PMID: 24856766

10

A girl with West syndrome and autistic features harboring a de novo TBL1XR1 mutation.

Saitsu H, Tohyama J, Walsh T, Kato M, Kobayashi Y, Lee M, Tsurusaki Y, Miyake N, Goto Y, Nishino I, Ohtake A, King MC, Matsumoto N. Saitsu H, et al. Among authors: kobayashi y. J Hum Genet. 2014 Oct;59(10):581-3. doi: 10.1038/jhg.2014.71. Epub 2014 Aug 7. J Hum Genet. 2014. PMID: 25102098

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